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    Mutation

    Mutation: the changing of the structure of a gene, resulting in a variant form that may be transmitted to subsequent generations, caused by the alteration of single base units in DNA, or the deletion, insertion, or rearrangement of larger sections of genes or chromosomes.

    Webinars

    • SEP 12, 2018 | 6:00 AM
      Accelerating Tuberculosis Elimination with Genomics
      Accelerating Tuberculosis Elimination with Genomics
      The WHO has set ambitious targets for eliminating TB in low-incidence countries such as the US and Canada. While it’s true that the majority of TB cases in these settings arise from rea...
      Speaker: Jennifer Gardy, PhD
      Presented at: Microbiology & Immunology Virtual Event Series 2018
      3
      AUG 09, 2018 | 8:00 AM
      Exon-level array: Bridging the gap between chromosomal microarray and next-gen sequencing
      Exon-level array: Bridging the gap between chromosomal microarray...
      DATE:  August 9, 2018TIME:  8:00am PDT, 11:00am EDT Current exon-level arrays and NGS techniques for CNV detection are plagued with a high number of false-positive...
      Speaker: Nicole de Leeuw, PhD , Kristina Cusmano-Ozog, MD
      Sponsored By: Thermo Fisher Scientific - Applied Biosystems
      9
      AUG 07, 2018 | 8:00 AM
      Using Reference Standards to Validate your NGS Oncology Workflow
      Using Reference Standards to Validate your NGS Oncology Workflow
      DATE: August 7, 2018TIME: 08:00AM PDT, 11:00AM EDTWe are currently at an exciting precipice in clinical oncology management, where an increased rate of biomarker identification is drivi...
      Speaker: Hannah Child, PhD
      Sponsored By: Horizon Discovery
      10 1
      JUN 21, 2018 | 10:30 AM
      Setting Up Next-Generation Sequencing for the Needs of Routine Molecular Diagnostics With a Focus on the Suitability of the GeneReader NGS System for Lung Cancer Patients
      Setting Up Next-Generation Sequencing for the Needs of Routine...
      The introduction of targeted therapies into the clinical management of lung adenocarcinoma has had a massive impact on patient care. Multiple driver mutations are now druggable and treatments...
      Speaker: Paul Hofman, MD, PhD
      Presented at: Precision Medicine Virtual Event Series 2018
      Sponsored By: QIAGEN
      1
      JUN 20, 2018 | 9:00 AM
      Identifying Driver Alterations and Therapeutic Options in Cancer
      Identifying Driver Alterations and Therapeutic Options in Cancer
      With prospective clinical sequencing of tumors emerging as a mainstay in cancer care, there is an urgent need for clinical support tools that aid clinicians in their decision making. To this...
      Speaker: Nikolaus Schultz, PhD
      Presented at: Precision Medicine Virtual Event Series 2018
      1
      MAY 31, 2018 | 12:00 PM
      Cas9-Based Genome Engineering
      Cas9-Based Genome Engineering
      I will discuss three novel technologies that our laboratory has developed in recent years. In the first part of the talk, I will describe our work on engineering variants of the RNA-guided en...
      Speaker: Alejandro Chavez, MD, PhD
      Presented at: Lab Automation Virtual Event Series 2018
      2
      MAY 30, 2018 | 10:30 AM
      Inhibitors of NSD2 Discovered by High-Throughput Screening with a Nucleosome Substrate
      Inhibitors of NSD2 Discovered by High-Throughput Screening with...
      NSD2 catalyzes the mono- and di-methylation of the e-amine of lysine 36 from histone H3, utilizing the methyl donor S-adenosyl-L-methionine. Increased catalytic activity of NSD2, either by ov...
      Speaker: Nathan Coussens, PhD
      Presented at: Lab Automation Virtual Event Series 2018
      1
      MAY 07, 2018 | 10:00 AM
      Managing CMV Infection and Realizing Operational Efficiencies in your Laboratory
      Managing CMV Infection and Realizing Operational Efficiencies...
      Part of the Transplant Education Webinar Series, PACE accredited, Open May 7th, 2018 at 10:30am PDT, 1:30pm EDT...
      Speaker: Dr. John McKinnon, MD, MSc , Dr. Frederick (Rick) Nolte, PhD
      Sponsored By: Abbott Molecular Diagnostic
      9
      APR 12, 2018 | 10:30 AM
      The Genome in 3D: A Clinical Biomarker Platform
      The Genome in 3D: A Clinical Biomarker Platform
      In genomics, as in life, you need to be in the right place at the right time, and you need integrity, to be credible. Since the availability of the human genome sequence, there's been an...
      Speaker: Kevin Little, PhD
      Presented at: Molecular Diagnostics Virtual Event Series 2018
      1
      APR 12, 2018 | 9:00 AM
      QIAseq Digital Sequencing and Biomedical Genomics Workbench: Application to Liquid Biopsy in Bladder Cancer Research
      QIAseq Digital Sequencing and Biomedical Genomics Workbench: Application...
      This presentation illustrates the features of QIAGEN sample to insight approach, and how it combines a powerful chemistry based on unique molecular indexes (UMIs) and a UMI-aware bioinformati...
      Speaker: Francesco Lescai, PhD, EDBT
      Presented at: Molecular Diagnostics Virtual Event Series 2018
      Sponsored By: QIAGEN Molecular Diagnostics
      1
      APR 12, 2018 | 7:30 AM
      Keynote Presentation: Molecular Testing for Hereditary-Familial Prostate Cancer and for Risk Assessment in Localized Disease
      Keynote Presentation: Molecular Testing for Hereditary-Familial...
      Prostate cancer is one of the most common cancers in men and a major health issue in the US and Worldwide.  Until recently, prostate cancer was not felt to be a hereditary disease.  ...
      Speaker: Judd W Moul, MD, FACS
      Presented at: Molecular Diagnostics Virtual Event Series 2018
      1
      MAR 29, 2018 | 1:30 PM
      Cannabidiol Treatment of Epilepsy and Autism Through Restoration of GABAergic Signaling
      Cannabidiol Treatment of Epilepsy and Autism Through Restoration...
      Cannabidiol (CBD) has emerged as a promising anti-epileptic drug in otherwise treatment-resistant genetic epileptic disorders. However, the clinical trials have been limited by their use of C...
      Speaker: Joshua Kaplan, PhD
      Presented at: Cannabis Sciences Virtual Event Series 2018
      3
      MAR 15, 2018 | 1:30 PM
      Rare Inherited Mutations in Autism Spectrum Disorder
      Rare Inherited Mutations in Autism Spectrum Disorder
      Autism spectrum disorder (ASD) is a complex group of individually rare neurological conditions with genetic and non-genetic causes. Despite the strong genetic component of ASD, it has been ve...
      Speaker: Maria Chahrour, PhD
      Presented at: Neuroscience Virtual Event Series 2018
      2
      MAR 15, 2018 | 10:30 AM
      Overcoming Hurdles in the Study of Rare Diseases: Innovative Strategies for Novel Therapy Development
      Overcoming Hurdles in the Study of Rare Diseases: Innovative Strategies...
      The study of rare, neurological disorder and the development of effect treatments can pose many unique challenges. A paucity of scientists working on these disorders often limits forward prog...
      Speaker: Jill Weimer, PhD
      Presented at: Neuroscience Virtual Event Series 2018
      1
      MAR 14, 2018 | 10:30 AM
      Studying Sex-Specific Signaling to Understand Male Bias in Neurodevelopmental Disorders
      Studying Sex-Specific Signaling to Understand Male Bias in Neurodevelopmental...
      Since its initial description more than 70 years ago, autism spectrum disorder (ASD) has been diagnosed more frequently in boys. However, we remain unsure of why males are affected in greater...
      Speaker: Chiara Manzini, PhD
      Presented at: Neuroscience Virtual Event Series 2018
      1
      MAR 01, 2018 | 12:00 AM
      Human PSC-based disease modeling to study X-linked Dystonia-Parkinsonism
      Human PSC-based disease modeling to study X-linked Dystonia-Parkinsonism
      The isolation of human embryonic stem cells (hESCs) and the discovery of human induced pluripotent stem cell (hiPSC) reprogramming have sparked a renaissance in stem cell biology, in vitro di...
      Speaker: William Hendriks
      Presented at: 6th annual 24 Hours of Stem Cellsâ„¢ virtual event
      2
      FEB 22, 2018 | 9:00 AM
      Investigating colorectal cancer using epithelial organoid cultures
      Investigating colorectal cancer using epithelial organoid cultures
      DATE: February 22, 2018TIME: 09:00am PST, 12:00pm EST, 06:00pm CEST(Europe)Colorectal cancer (CRC) develops during a multi-step process from small lesions of the intestinal epithelium....
      Speaker: Kai Kretzschmar, PhD
      Sponsored By: Thermo Fisher Scientific/Gibco
      9 3
      FEB 22, 2018 | 7:30 AM
      Keynote Presentation: Predictive Biomarkers to Diagnostic Tests - Scientific and Regulatory Consideration in Development of Companion Diagnostic Tests
      Keynote Presentation: Predictive Biomarkers to Diagnostic Tests...
      The path form biomarker discovery to conversion to a clinically useful companion diagnostic test presents many challenges. The talk will outline the regulatory requirements to developing a su...
      Speaker: Janaki Veeraraghavan, PhD
      Presented at: Drug Discovery Virtual Event Series 2018
      1
      FEB 22, 2018 | 6:00 AM
      Developing Personalized Cancer Neoantigen Vaccines
      Developing Personalized Cancer Neoantigen Vaccines
      Vaccibody has developed a unique platform technology able to substantially potentiate vaccines by an inherent mechanism that attract, activate and deliver antigens to antigen presenting cells...
      Speaker: Agnete Fredriksen, MSc, PhD
      Presented at: Drug Discovery Virtual Event Series 2018
      1
      FEB 21, 2018 | 12:00 PM
      Allosteric Modulation of Metabotropic Glutamate Receptors for the Treatment of Neurodevelopmental Disorders
      Allosteric Modulation of Metabotropic Glutamate Receptors for...
      Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the Methyl CpG Binding Protein 2 (MECP2) gene. In mouse models of RTT, deficits in long-term potentiation (LTP) at...
      Speaker: Colleen Niswender, PhD
      Presented at: Drug Discovery Virtual Event Series 2018
      1
      JAN 25, 2018 | 8:00 AM
      WEBINAR:  Understanding Immunosuppressive Myeloid Cells and Immunotherapy using Proteome Profilerâ„¢ Arrays
      WEBINAR: Understanding Immunosuppressive Myeloid Cells and Immunotherapy...
      DATE: January 25, 2018TIME:  8:00AM PST, 10:00AM CSTProstate cancer (PCa) is the most common noncutaneous malignancy in men in the US. A significant fraction of advanced PCa treate...
      Speaker: Xin Lu, PhD
      Sponsored By: ACD - A Bio-Techne Brand
      6
      JAN 18, 2018 | 8:00 AM
      Unravel the exome odyssey: overcome the challenges of exon-level CNV detection
      Unravel the exome odyssey: overcome the challenges of exon-level...
      Current exon-level arrays and NGS techniques for CNV detection are plagued with a high number of false-positive calls and are challenging...
      Speaker: Alka Chaubey, PhD, FACMG , Kristina Cusmano-Ozog, MD
      Sponsored By: Thermo Fisher Scientific - Applied Biosystems
      8
      JAN 01, 2018 | 10:00 AM
      Disease modelling with human pluripotent stem cells: general principles and specific applications to obesity
      Disease modelling with human pluripotent stem cells: general principles...
      The capacity to generate disease-relevant cell populations from human pluripotent stem cells has tremendous potential for shedding light on human disease mechanisms. I will discuss basic prin...
      Speaker: Florian Merkle
      Presented at: 6th annual 24 Hours of Stem Cellsâ„¢ virtual event
      2
      DEC 05, 2017 | 6:00 AM
      WEBINAR: Androgen signaling in advanced prostate cancer models using noninvasive hyper polarized MRI and mass spectrometry
      WEBINAR: Androgen signaling in advanced prostate cancer models...
      DATE: December 5th, 2017TIME:  6:00AM PTAndrogen receptor (AR) signaling remains a driver in the lethal phenotype of prostate cancer, castrate resistant prostate cancer (CRPC). Nov...
      Speaker: Mark Titus, PhD
      Sponsored By: Agilent
      4
    SEP 12, 2018 | 6:00 AM
    Accelerating Tuberculosis Elimination with Genomics
    Accelerating Tuberculosis Elimination with Genomics
    The WHO has set ambitious targets for eliminating TB in low-incidence countries such as the US and Canada. While it’s true that the majority of TB cases in these settings arise from rea...
    Speaker: Jennifer Gardy, PhD
    Presented at: Microbiology & Immunology Virtual Event Series 2018
    3
    AUG 09, 2018 | 8:00 AM
    Exon-level array: Bridging the gap between chromosomal microarray and next-gen sequencing
    Exon-level array: Bridging the gap between chromosomal microarray...
    DATE:  August 9, 2018TIME:  8:00am PDT, 11:00am EDT Current exon-level arrays and NGS techniques for CNV detection are plagued with a high number of false-positive...
    Speaker: Nicole de Leeuw, PhD , Kristina Cusmano-Ozog, MD
    Sponsored By: Thermo Fisher Scientific - Applied Biosystems
    9
    AUG 07, 2018 | 8:00 AM
    Using Reference Standards to Validate your NGS Oncology Workflow
    Using Reference Standards to Validate your NGS Oncology Workflow
    DATE: August 7, 2018TIME: 08:00AM PDT, 11:00AM EDTWe are currently at an exciting precipice in clinical oncology management, where an increased rate of biomarker identification is drivi...
    Speaker: Hannah Child, PhD
    Sponsored By: Horizon Discovery
    10 1
    JUN 21, 2018 | 10:30 AM
    Setting Up Next-Generation Sequencing for the Needs of Routine Molecular Diagnostics With a Focus on the Suitability of the GeneReader NGS System for Lung Cancer Patients
    Setting Up Next-Generation Sequencing for the Needs of Routine...
    The introduction of targeted therapies into the clinical management of lung adenocarcinoma has had a massive impact on patient care. Multiple driver mutations are now druggable and treatments...
    Speaker: Paul Hofman, MD, PhD
    Presented at: Precision Medicine Virtual Event Series 2018
    Sponsored By: QIAGEN
    1
    JUN 20, 2018 | 9:00 AM
    Identifying Driver Alterations and Therapeutic Options in Cancer
    Identifying Driver Alterations and Therapeutic Options in Cancer
    With prospective clinical sequencing of tumors emerging as a mainstay in cancer care, there is an urgent need for clinical support tools that aid clinicians in their decision making. To this...
    Speaker: Nikolaus Schultz, PhD
    Presented at: Precision Medicine Virtual Event Series 2018
    1
     
     
  • MAY 31, 2018 | 12:00 PM
    Cas9-Based Genome Engineering
    Cas9-Based Genome Engineering
    I will discuss three novel technologies that our laboratory has developed in recent years. In the first part of the talk, I will describe our work on engineering variants of the RNA-guided en...
    Speaker: Alejandro Chavez, MD, PhD
    Presented at: Lab Automation Virtual Event Series 2018
    2
    MAY 30, 2018 | 10:30 AM
    Inhibitors of NSD2 Discovered by High-Throughput Screening with a Nucleosome Substrate
    Inhibitors of NSD2 Discovered by High-Throughput Screening with...
    NSD2 catalyzes the mono- and di-methylation of the e-amine of lysine 36 from histone H3, utilizing the methyl donor S-adenosyl-L-methionine. Increased catalytic activity of NSD2, either by ov...
    Speaker: Nathan Coussens, PhD
    Presented at: Lab Automation Virtual Event Series 2018
    1
    MAY 07, 2018 | 10:00 AM
    Managing CMV Infection and Realizing Operational Efficiencies in your Laboratory
    Managing CMV Infection and Realizing Operational Efficiencies...
    Part of the Transplant Education Webinar Series, PACE accredited, Open May 7th, 2018 at 10:30am PDT, 1:30pm EDT...
    Speaker: Dr. John McKinnon, MD, MSc , Dr. Frederick (Rick) Nolte, PhD
    Sponsored By: Abbott Molecular Diagnostic
    9
    APR 12, 2018 | 10:30 AM
    The Genome in 3D: A Clinical Biomarker Platform
    The Genome in 3D: A Clinical Biomarker Platform
    In genomics, as in life, you need to be in the right place at the right time, and you need integrity, to be credible. Since the availability of the human genome sequence, there's been an...
    Speaker: Kevin Little, PhD
    Presented at: Molecular Diagnostics Virtual Event Series 2018
    1
    APR 12, 2018 | 9:00 AM
    QIAseq Digital Sequencing and Biomedical Genomics Workbench: Application to Liquid Biopsy in Bladder Cancer Research
    QIAseq Digital Sequencing and Biomedical Genomics Workbench: Application...
    This presentation illustrates the features of QIAGEN sample to insight approach, and how it combines a powerful chemistry based on unique molecular indexes (UMIs) and a UMI-aware bioinformati...
    Speaker: Francesco Lescai, PhD, EDBT
    Presented at: Molecular Diagnostics Virtual Event Series 2018
    Sponsored By: QIAGEN Molecular Diagnostics
    1
     
     
  • APR 12, 2018 | 7:30 AM
    Keynote Presentation: Molecular Testing for Hereditary-Familial Prostate Cancer and for Risk Assessment in Localized Disease
    Keynote Presentation: Molecular Testing for Hereditary-Familial...
    Prostate cancer is one of the most common cancers in men and a major health issue in the US and Worldwide.  Until recently, prostate cancer was not felt to be a hereditary disease.  ...
    Speaker: Judd W Moul, MD, FACS
    Presented at: Molecular Diagnostics Virtual Event Series 2018
    1
    MAR 29, 2018 | 1:30 PM
    Cannabidiol Treatment of Epilepsy and Autism Through Restoration of GABAergic Signaling
    Cannabidiol Treatment of Epilepsy and Autism Through Restoration...
    Cannabidiol (CBD) has emerged as a promising anti-epileptic drug in otherwise treatment-resistant genetic epileptic disorders. However, the clinical trials have been limited by their use of C...
    Speaker: Joshua Kaplan, PhD
    Presented at: Cannabis Sciences Virtual Event Series 2018
    3
    MAR 15, 2018 | 1:30 PM
    Rare Inherited Mutations in Autism Spectrum Disorder
    Rare Inherited Mutations in Autism Spectrum Disorder
    Autism spectrum disorder (ASD) is a complex group of individually rare neurological conditions with genetic and non-genetic causes. Despite the strong genetic component of ASD, it has been ve...
    Speaker: Maria Chahrour, PhD
    Presented at: Neuroscience Virtual Event Series 2018
    2
    MAR 15, 2018 | 10:30 AM
    Overcoming Hurdles in the Study of Rare Diseases: Innovative Strategies for Novel Therapy Development
    Overcoming Hurdles in the Study of Rare Diseases: Innovative Strategies...
    The study of rare, neurological disorder and the development of effect treatments can pose many unique challenges. A paucity of scientists working on these disorders often limits forward prog...
    Speaker: Jill Weimer, PhD
    Presented at: Neuroscience Virtual Event Series 2018
    1
    MAR 14, 2018 | 10:30 AM
    Studying Sex-Specific Signaling to Understand Male Bias in Neurodevelopmental Disorders
    Studying Sex-Specific Signaling to Understand Male Bias in Neurodevelopmental...
    Since its initial description more than 70 years ago, autism spectrum disorder (ASD) has been diagnosed more frequently in boys. However, we remain unsure of why males are affected in greater...
    Speaker: Chiara Manzini, PhD
    Presented at: Neuroscience Virtual Event Series 2018
    1
     
     
  • MAR 01, 2018 | 12:00 AM
    Human PSC-based disease modeling to study X-linked Dystonia-Parkinsonism
    Human PSC-based disease modeling to study X-linked Dystonia-Parkinsonism
    The isolation of human embryonic stem cells (hESCs) and the discovery of human induced pluripotent stem cell (hiPSC) reprogramming have sparked a renaissance in stem cell biology, in vitro di...
    Speaker: William Hendriks
    Presented at: 6th annual 24 Hours of Stem Cellsâ„¢ virtual event
    2
    FEB 22, 2018 | 9:00 AM
    Investigating colorectal cancer using epithelial organoid cultures
    Investigating colorectal cancer using epithelial organoid cultures
    DATE: February 22, 2018TIME: 09:00am PST, 12:00pm EST, 06:00pm CEST(Europe)Colorectal cancer (CRC) develops during a multi-step process from small lesions of the intestinal epithelium....
    Speaker: Kai Kretzschmar, PhD
    Sponsored By: Thermo Fisher Scientific/Gibco
    9 3
    FEB 22, 2018 | 7:30 AM
    Keynote Presentation: Predictive Biomarkers to Diagnostic Tests - Scientific and Regulatory Consideration in Development of Companion Diagnostic Tests
    Keynote Presentation: Predictive Biomarkers to Diagnostic Tests...
    The path form biomarker discovery to conversion to a clinically useful companion diagnostic test presents many challenges. The talk will outline the regulatory requirements to developing a su...
    Speaker: Janaki Veeraraghavan, PhD
    Presented at: Drug Discovery Virtual Event Series 2018
    1
    FEB 22, 2018 | 6:00 AM
    Developing Personalized Cancer Neoantigen Vaccines
    Developing Personalized Cancer Neoantigen Vaccines
    Vaccibody has developed a unique platform technology able to substantially potentiate vaccines by an inherent mechanism that attract, activate and deliver antigens to antigen presenting cells...
    Speaker: Agnete Fredriksen, MSc, PhD
    Presented at: Drug Discovery Virtual Event Series 2018
    1
    FEB 21, 2018 | 12:00 PM
    Allosteric Modulation of Metabotropic Glutamate Receptors for the Treatment of Neurodevelopmental Disorders
    Allosteric Modulation of Metabotropic Glutamate Receptors for...
    Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the Methyl CpG Binding Protein 2 (MECP2) gene. In mouse models of RTT, deficits in long-term potentiation (LTP) at...
    Speaker: Colleen Niswender, PhD
    Presented at: Drug Discovery Virtual Event Series 2018
    1
     
     
  • JAN 25, 2018 | 8:00 AM
    WEBINAR:  Understanding Immunosuppressive Myeloid Cells and Immunotherapy using Proteome Profilerâ„¢ Arrays
    WEBINAR: Understanding Immunosuppressive Myeloid Cells and Immunotherapy...
    DATE: January 25, 2018TIME:  8:00AM PST, 10:00AM CSTProstate cancer (PCa) is the most common noncutaneous malignancy in men in the US. A significant fraction of advanced PCa treate...
    Speaker: Xin Lu, PhD
    Sponsored By: ACD - A Bio-Techne Brand
    6
    JAN 18, 2018 | 8:00 AM
    Unravel the exome odyssey: overcome the challenges of exon-level CNV detection
    Unravel the exome odyssey: overcome the challenges of exon-level...
    Current exon-level arrays and NGS techniques for CNV detection are plagued with a high number of false-positive calls and are challenging...
    Speaker: Alka Chaubey, PhD, FACMG , Kristina Cusmano-Ozog, MD
    Sponsored By: Thermo Fisher Scientific - Applied Biosystems
    8
    JAN 01, 2018 | 10:00 AM
    Disease modelling with human pluripotent stem cells: general principles and specific applications to obesity
    Disease modelling with human pluripotent stem cells: general principles...
    The capacity to generate disease-relevant cell populations from human pluripotent stem cells has tremendous potential for shedding light on human disease mechanisms. I will discuss basic prin...
    Speaker: Florian Merkle
    Presented at: 6th annual 24 Hours of Stem Cellsâ„¢ virtual event
    2
    DEC 05, 2017 | 6:00 AM
    WEBINAR: Androgen signaling in advanced prostate cancer models using noninvasive hyper polarized MRI and mass spectrometry
    WEBINAR: Androgen signaling in advanced prostate cancer models...
    DATE: December 5th, 2017TIME:  6:00AM PTAndrogen receptor (AR) signaling remains a driver in the lethal phenotype of prostate cancer, castrate resistant prostate cancer (CRPC). Nov...
    Speaker: Mark Titus, PhD
    Sponsored By: Agilent
    4
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